NovelFGF8Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction
نویسندگان
چکیده
منابع مشابه
Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction.
CONTEXT Fibroblast growth factor (FGF) 8 is important for GnRH neuronal development with human mutations resulting in Kallmann syndrome. Murine data suggest a role for Fgf8 in hypothalamo-pituitary development; however, its role in the etiology of wider hypothalamo-pituitary dysfunction in humans is unknown. OBJECTIVE The objective of this study was to screen for FGF8 mutations in patients wi...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2011
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2011-0454